MAP2K2 (mitogen-activated protein kinase kinase 2)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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5605 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Mitogen-activated protein kinase kinase 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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MAP2K2 |
SynonymsGene synonyms aliases
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CFC4, MAPKK2, MEK2, MKK2, PRKMK2 |
ChromosomeChromosome number
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19 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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19p13.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs117945277 |
G>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, missense variant |
rs121434497 |
A>C,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs121434498 |
A>C,G,T |
Uncertain-significance, pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs121434499 |
A>G |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs139404261 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign |
Synonymous variant, coding sequence variant |
rs267607230 |
G>A,C,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs387906800 |
C>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
rs539611844 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
rs727504370 |
T>C |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
rs727504382 |
C>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
rs727504836 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
rs730880511 |
C>A,T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs730880517 |
T>C |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
rs730880518 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs730880522 |
C>T |
Likely-pathogenic |
Downstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant, intron variant |
rs759061964 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
rs763424788 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Downstream transcript variant, intron variant, genic downstream transcript variant |
rs763469132 |
TTC>- |
Conflicting-interpretations-of-pathogenicity |
Downstream transcript variant, coding sequence variant, inframe deletion, genic downstream transcript variant, intron variant |
rs886041310 |
T>A,G |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs1057519806 |
T>C,G |
Pathogenic, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs1057519807 |
A>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1057519808 |
T>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1057519809 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1057519810 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1057519910 |
A>C,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs1114167351 |
ATC>- |
Pathogenic |
Coding sequence variant, inframe deletion |
rs1135401787 |
A>C,G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1599307313 |
ACCTTG>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000165 |
Process |
MAPK cascade |
TAS |
|
GO:0000187 |
Process |
Activation of MAPK activity |
IBA |
21873635 |
GO:0000187 |
Process |
Activation of MAPK activity |
TAS |
19565474 |
GO:0004674 |
Function |
Protein serine/threonine kinase activity |
TAS |
|
GO:0004708 |
Function |
MAP kinase kinase activity |
IBA |
21873635 |
GO:0004708 |
Function |
MAP kinase kinase activity |
IDA |
8388392 |
GO:0004712 |
Function |
Protein serine/threonine/tyrosine kinase activity |
TAS |
19565474 |
GO:0004713 |
Function |
Protein tyrosine kinase activity |
IEA |
|
GO:0005078 |
Function |
MAP-kinase scaffold activity |
IMP |
29433126 |
GO:0005515 |
Function |
Protein binding |
IPI |
11909642, 17979178, 21615688, 21988832, 24746704, 25416956, 25600339, 25852190, 27086506, 28514442, 29433126, 31980649, 32296183, 32814053 |
GO:0005524 |
Function |
ATP binding |
IEA |
|
GO:0005576 |
Component |
Extracellular region |
NAS |
8388392 |
GO:0005634 |
Component |
Nucleus |
TAS |
19565474 |
GO:0005739 |
Component |
Mitochondrion |
TAS |
19565474 |
GO:0005769 |
Component |
Early endosome |
TAS |
19565474 |
GO:0005770 |
Component |
Late endosome |
TAS |
19565474 |
GO:0005778 |
Component |
Peroxisomal membrane |
HDA |
21525035 |
GO:0005783 |
Component |
Endoplasmic reticulum |
IDA |
21615688 |
GO:0005794 |
Component |
Golgi apparatus |
IDA |
21615688 |
GO:0005794 |
Component |
Golgi apparatus |
TAS |
19565474 |
GO:0005829 |
Component |
Cytosol |
TAS |
19565474 |
GO:0005874 |
Component |
Microtubule |
IDA |
21615688 |
GO:0005911 |
Component |
Cell-cell junction |
IDA |
21615688 |
GO:0005925 |
Component |
Focal adhesion |
TAS |
19565474 |
GO:0009898 |
Component |
Cytoplasmic side of plasma membrane |
IDA |
21615688 |
GO:0010629 |
Process |
Negative regulation of gene expression |
IGI |
23626836 |
GO:0018108 |
Process |
Peptidyl-tyrosine phosphorylation |
IEA |
|
GO:0030165 |
Function |
PDZ domain binding |
IDA |
21615688 |
GO:0032872 |
Process |
Regulation of stress-activated MAPK cascade |
TAS |
19565474 |
GO:0036289 |
Process |
Peptidyl-serine autophosphorylation |
IDA |
8388392 |
GO:0043539 |
Function |
Protein serine/threonine kinase activator activity |
IDA |
8388392 |
GO:0045893 |
Process |
Positive regulation of transcription, DNA-templated |
IMP |
24375836 |
GO:0046872 |
Function |
Metal ion binding |
IEA |
|
GO:0048471 |
Component |
Perinuclear region of cytoplasm |
IDA |
21615688 |
GO:0070371 |
Process |
ERK1 and ERK2 cascade |
IMP |
24375836 |
GO:0070371 |
Process |
ERK1 and ERK2 cascade |
TAS |
|
GO:0071902 |
Process |
Positive regulation of protein serine/threonine kinase activity |
IDA |
8388392 |
GO:0090170 |
Process |
Regulation of Golgi inheritance |
TAS |
19565474 |
GO:0097110 |
Function |
Scaffold protein binding |
IPI |
10409742, 21615688 |
GO:1903800 |
Process |
Positive regulation of production of miRNAs involved in gene silencing by miRNA |
IMP |
24375836 |
GO:2000641 |
Process |
Regulation of early endosome to late endosome transport |
TAS |
19565474 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
P36507 |
Protein name |
Dual specificity mitogen-activated protein kinase kinase 2 (MAP kinase kinase 2) (MAPKK 2) (EC 2.7.12.2) (ERK activator kinase 2) (MAPK/ERK kinase 2) (MEK 2) |
Protein function |
Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in MAP kinases. Activates the ERK1 and ERK2 MAP kinases (By similarity). Activates BRAF in a KSR1 or KSR2-dependent manner; by bind |
PDB |
1S9I
,
4H3Q
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00069 |
Pkinase |
72 → 369 |
Protein kinase domain |
Domain |
|
Sequence |
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Sequence length |
400 |
Interactions |
View interactions |
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